tbuckley/cabot-search huggingface dataset:
BI20 Generalized pustular psoriasis in a patient receiving pembrolizumab for metastatic lung adenocarcinoma
Authors: Jeva Cernova, Majeeda Patel, Jinesh Dattani, Rebeca Goiriz, Sukaina Rashid, Catherine Harwood
Journal: British Journal of Dermatology (2023)

Abstract Skin toxicities are the most common immune-related adverse events (irAEs) associated with immune checkpoint inhibitor (ICI) treatment, an emerging field in dermatology. A wide spectrum of skin irAEs, including lichenoid reactions, vitiligo, bullous pemphigoid and other autoimmune skin diseases, have been reported. Psoriasiform irAEs may occur as an exacerbation of pre-existing disease or de novo and often occur later than other skin irAEs. Most cases reported to date are of chronic plaque and palmoplantar psoriasis. Generalized pustular psoriasis has been reported in fewer than 10 cases. We present a patient with mild pre-existing psoriasis who developed plaque psoriasis, evolving into severe pustular psoriasis after 4 months of pembrolizumab therapy for lung cancer. A 67-year-old man with stage 4 lung adenocarcinoma developed a widespread, itchy psoriasiform rash 3 months after starting pembrolizumab. He had a history of rheumatoid arthritis (RA) and pembrolizumab was started when he had progressed through chemotherapy. The RA was controlled on prednisolone, which was increased when methotrexate was discontinued shortly after diagnosis of lung cancer. He had a family history of psoriasis, and although he had previously been noted to have limited plaque and nail psoriasis, this had required minimal treatment. Within 2 months of starting pembrolizumab, he developed scaly, red plaques affecting more than 30% body surface area (BSA). The oncology team diagnosed a grade 3 skin toxicity and increased doses of oral steroids. Upon steroid tapering, the rash flared and was diagnosed in dermatology as consistent with exacerbation of pre-existing plaque psoriasis secondary to pembrolizumab and high-dose steroids. He partially responded to skin-directed treatment, but 2 months later following his sixth cycle of pembrolizumab, he progressed to generalized suberythrodermic pustular psoriasis. He was treated with acitretin and methotrexate. The incidence of ICI-mediated psoriasis and psoriasiform irAEs is approximately 4% of all skin toxicities. A cohort study by the European Network for Cutaneous Adverse Event to Oncologic Drugs group reported that 70% of 115 patients had no history of psoriasis. Ten per cent of psoriasiform irAEs were categorized as severe, involving more than 30% BSA. However, only eight (7%) had pustular involvement and 2% erythroderma. Treatment options include acitretin, methotrexate, apremilast and biologics. Guttate psoriasis and grade 2/3 disease were significant positive predictors for the antitumour response of ICIs. In summary, ICI-related psoriasis is an increasingly common problem with widespread use of immunotherapy. Early diagnosis and adequate management with agents that do not interfere with immunotherapy, or with the underlying malignancy, and close liaison with oncology are crucial.
BT21 Usability evaluation and reporting for mobile health apps targeting patients with skin diseases: a systematic review
Authors: Georgios Kounidas, Iona Cleer, Elinor Harriss, Rachel Harrison, Rubeta Matin
Journal: British Journal of Dermatology (2023)

Abstract Usability is an important method for evaluating emerging technologies, including mobile health apps, from a user perspective. However, many apps have been made available to the public with insufficient effort devoted to their design, development and evaluation. We conducted a systematic review to assess usability evaluation and reporting for mobile health apps targeting patients with skin diseases. The primary outcome was to assess the usability of patient/public-facing skin disease-specific smartphone apps. The secondary outcome was to assess the usability testing methods employed. The protocol was registered with PROSPERO (CRD42022347184). A search strategy combined terms for usability evaluation, user experience, skin disease and mobile health apps (search date 2012–27 May 2022). Six databases (Embase, MEDLINE, CINAHL, Cochrane CENTRAL, Cochrane Database of Systematic Reviews and Scopus) were searched providing 15 234 results. Nine studies were eligible for inclusion in the final analysis. A narrative synthesis of usability evaluation methods used was reported. All studies included an equal uptake between men and women. Two studies of interest included sun protection (n = 3) and skin cancer (n = 3), and one study identified cutaneous leishmaniasis, spina bifida, chronic pruritus, acne, psoriasis, rosacea laser treatments, actinic damage, monitoring benign moles, alopecia and inflammatory rash. All studies assessed app usability and/or feasibility, with eight of nine studies concluding that their app was useful and easy to use. Most studies were qualitative, employing usability questionnaires or semi-structured interviews. Common emerging themes included easy to use/easy to navigate, easy to understand, security/privacy, method of self-monitoring, data sharing with a healthcare provider, customizability, costs and ability to track progress. The most common modules of the apps included taking/storing skin photographs, reminders to monitor skin, education modules and e-diaries/rating of symptoms. Usability encompassed various concepts, including feasibility, usefulness and satisfaction. In conclusion, smartphone apps used in the context of health-related skin disorders have a high degree of usability and are being developed across a wide variety of disease processes and indications. The paucity of reported literature compared with the current explosion of app development and deployment highlights the importance of careful user-centred design and rigorous evaluation of these tools before they are released for widespread uptake. Future studies should aim to evaluate all usability factors rather than focusing on single components of usability as this would optimize greater long-term uptake of these apps.
BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
Authors: Pratima Poudel, Zahra Haider, Gavin Ryan, Malobi Ogboli, Celia Moss
Journal: British Journal of Dermatology (2023)

Abstract Hereditary nonsyndromic hypotrichosis comprises at least 15 genetically distinct but phenotypically overlapping disorders. Affected individuals generally have hair at birth, which sheds during infancy or childhood. Severity ranges from partial alopecia to complete loss of scalp and body hair, with phenotypic variability between and within families. Genetic testing is essential for accurate diagnosis and counselling. We describe a case where several factors contributed to a delay in genetic diagnosis. A female child of nonconsanguineous White parents was born at term with normal hair that started to shed at 2 weeks of age. By 6 weeks of age, there was a complete absence of scalp, eyelash and eyebrow hair. There was no relevant family history apart from atopy. On examination at 3.3 years of age, she had total alopecia apart from some hairs in the external auditory canals. Nails, teeth and sweating were normal. She appeared developmentally normal and healthy apart from mild eczema with persistent erythema on both cheeks. The differential diagnosis included autoimmune alopecia and genetic nonsyndromic hypotrichosis. She was recruited to the 100 000 Genomes Project, but primary analysis did not identify any causative variants. Reanalysis using a limited gene-agnostic approach identified heterozygosity for the c.1A&amp;gt;G; p.(Met1?) variant in small nuclear ribonucleoprotein polypeptide E (SNRPE) that was not present in parents. This variant is not present in the gnomAD population database and is predicted to alter the initiation codon of SNRPE. It has been reported de novo in a British girl with sparse scalp hair and eyelashes and absent eyebrows, and in eight affected members of a Spanish family whose phenotypes ranged from sparse eyebrows and eyelashes to complete alopecia (Pasternack SM, Refke M, Paknia E et al. Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal dominant hypertrichosis simplex. Am J Hum Genet 2013; 92:81–7). This condition has been designated hypotrichosis type 11. SNRPE encodes a core protein of U small nuclear ribonucleoproteins, which are essential to the removal of introns from pre-mRNA and thus critical for the post-transcriptional modification of RNA. In our case, review of the primary analysis showed that the incorrect gene panel was applied (‘familial cicatricial alopecia’ instead of ‘nonsyndromic hypotrichosis’) and that SNRPE was listed as ‘amber’ for hypotrichosis, meaning ‘moderate evidence for this gene–disease association and should not yet be used for genome interpretation’. Genomics England has now incorporated nonsyndromic hypotrichosis into the ‘ectodermal dysplasia’ panel, with SNRPE now listed as ‘green’ for hypotrichosis 11, meaning a ‘high level of evidence for this gene–disease association’. This case emphasizes the importance of revisiting negative results as knowledge evolves.
BI04 Cutaneous cryptococcosis: a post-transplant cat among the pigeons
Authors: Majeeda Patel, Jeva Cernova, Diana Mabayoje, Ravindra Rajakariar, Anthony Warrens, Catherine Harwood
Journal: British Journal of Dermatology (2023)

Abstract Cryptococcosis is an infection caused by the encapsulated yeasts Cryptococcus neoformans and Cryptococcus gattii, which are opportunistic pathogens that mainly affect immunocompromised individuals. Infection is primarily by inhalation and causes pulmonary disease; haematogenous dissemination may affect other organs, particularly the central nervous system, with 10% of disseminated cryptococcosis affecting the skin. Primary cutaneous cryptococcosis due to direct skin inoculation is less common and rarely disseminates. We describe a kidney transplant recipient with disseminated cryptococcosis who presented with skin lesions in the early post-transplant period. As previously observed in a transplant patient with primary cutaneous cryptococcosis under our care, we propose that a history of close contact with urban pigeons was the source of infection. A 48-year-old man who had been transplanted in 2014 presented in May 2022 with a 3-cm-diameter, well-demarcated ulcer on his right shoulder which had been slowly enlarging over 6 weeks in close proximity to his recent COVID-19 vaccination site. Swab was positive for C. neoformans, serology was positive for cryptococcal antigen, chest X-ray showed a 14-mm nodule in the right lung and magnetic resonance imaging of the brain was normal. He was admitted by the transplant team and treated for presumed disseminated cryptococcal infection with intravenous AmBisome® and flucytosine for 2 weeks, and subsequently oral fluconazole. In view of his atypical presentation, we directly questioned him about previous skin disorders and possible sources of infection. It emerged that 6 months earlier, he had noticed multiple lesions on his legs but did not report this as they spontaneously resolved. Mobile phone images showed 0.5–1-cm umbilicated, red–purple nodules consistent with possible primary cutaneous cryptococcosis. We discovered that his balcony was covered in pigeons and their droppings, and he had unsuccessfully asked his local council to provide bird netting. This was the most likely source of his infection, although it is uncertain whether his skin involvement was primary, secondary or both, due to ongoing pigeon exposure. A 54-year-old female patient under our care who had previously presented 3 months post-transplant with extensive noduloulcerative umbilicated lesions confirmed on biopsy to be primary cutaneous cryptococcosis also had close contact with pigeons and their droppings in the immediate post-transplant period. The incidence of cryptococcosis in immunocompromised patients is increasing and cutaneous involvement may be the first manifestation of disseminated disease. The clinical spectrum of skin lesions is highly polymorphic, making diagnosis challenging. However, it should be considered in immunocompromised patients presenting with atypical skin lesions, particularly in the early post-transplant period.
P42 Are chest X-rays still necessary for prebiologic tuberculosis screening? A retrospective audit
Authors: Daniel Yi Liang Tan, Younghoon Kim, Zeeshaan Hasan, Anthony Bewley, Sarah Mehrtens, Padma Mohandas
Journal: British Journal of Dermatology (2023)

Abstract Biologics are commonly used in autoimmune dermatological conditions as an option if other treatments are unsuccessful or contraindicated. However, one major side-effect of biologics is immunosuppression, which may lead to the reactivation of latent tuberculosis (TB) in patients. The British Association of Dermatology has implemented guidelines that require doctors to screen for TB before prescribing biologics to patients. The 2020 guidelines advise screening questions, performance of a chest X-ray (CXR) and an interferon-γ release assay (IGRA). Current studies show that CXR has a sensitivity of 15% when diagnosing latent TB. While there is no gold standard for diagnosing latent TB, the IGRA is a commonly used test and is shown to be four times more effective than the tuberculin skin test. This study questions the diagnostic value of CXR in the screening of TB in asymptomatic patients, and whether it should be removed from the guidelines for such patients. A retrospective audit of dermatological patients in our trust was done over a 24-month period (January 2020–January 2022). Patients selected for the audit were those diagnosed with psoriasis or hidradenitis suppurativa and started on biologics during this 24-month period. Patients were assessed on the following: patient history, CXR results, IGRA results and screening outcomes. The data were quantitatively analysed to uncover the necessity of performing a CXR on patients starting biologics. Between January 2020 and January 2022, 77 patients were scheduled for prebiologic TB screening; CXRs were performed in 74 patients (96%), while 72 (94%) of patients had IGRA tests. During this period, three patients (4%) were diagnosed with latent TB based on positive IGRA results and normal CXR findings. They were subsequently treated for latent TB infection prior to biologic therapy. None of the patients with negative IGRA results had positive CXR findings for TB. This finding suggests that CXR is unnecessary at the initial stage of prebiologic TB screening for asymptomatic patients. IGRA can detect both latent and active TB, while CXR is recommended for the diagnosis of active TB. Mandating CXR comes at a cost to the National Health Service and subjects patients to unnecessary radiation exposure. We propose that CXR be done only for patients who are either symptomatic for TB or have a positive IGRA result.
PA21 A rare case of diffuse infantile fibromatosis
Authors: Alicia Goh, Maeve Lynch
Journal: British Journal of Dermatology (2023)

Abstract Fibromatoses are a heterogeneous collection of tumours of the skin and soft tissue with a large variability in presentation. We present a case of diffuse infantile fibromatosis in a 17-day-old infant boy. He was born at 40 + 7 weeks gestation with a vacuum-assisted delivery following an uncomplicated pregnancy. On physical examination, there were two well-circumscribed circular plaques that coalesced centrally on his left elbow. The plaque measured 2 × 1 cm and was firm, nontethered and nontender. Full skin examination was otherwise normal. Histopathological examination showed hyperkeratotic skin with an attenuated epidermis overlying a dermally based bland-appearing spindle cell proliferation. The lesion was infiltrative throughout the dermis and was arranged in short fascicles and interdigitated with subcutaneous fat, which was extensively trapped by spindle cells. There was no significant atypia and mitotic activity was identifiable but not brisk. Immunohistochemical stains showed strong and diffuse reactivity for smooth muscle actin. Infantile fibromatosis is the childhood counterpart of musculoaponeurotic fibromatosis. It is a benign mesenchymal tumour of infancy and early childhood with diffuse proliferations of oval-to-spindled fibroblasts that infiltrate regional structures. There is a male predominance and in most cases is noted within the first 8 years of life. Clinically, it presents as an asymptomatic, white-yellowish mass that is nontethered to the overlying skin. Although any site may be involved, the majority of cases affect the upper limbs, head and neck region. Histological findings include a wide morphological spectrum. In infants, small oval cells appearing between primitive mesenchymal cells and fibroblasts are in a myxoid background. The cells are loosely arranged and infiltrate skeletal muscle and other regional structures. Peripheral lymphocytic inflammation blends with more cellular proliferation composed of spindle-shaped fibroblasts arranged in bundles and fascicles. There is no well-documented immunohistochemical profile. An important differential diagnosis to exclude is congenital/infantile fibrosarcoma, which, characteristically, has high cellularity, uniform herringbone pattern, high mitotic rate, and zones of haemorrhage and necrosis. In terms of management, as there is a high likelihood of local recurrence in 65% of cases, evidence supports complete excision with documented margins. Where the lesion is diffusely infiltrative, a partial resection to maintain the best postoperative function is recommended.
PA09 (P79) A multidisciplinary expert consensus on the assessment of and support for mental health in children and young people living with skin conditions
Authors: Zahra Moledina, Tess McPherson, Jane Ravenscroft, Rukhsana Ali, Susannah Baron
Journal: British Journal of Dermatology (2023)

Abstract Psychological and mental health concerns are common in children and young people (CYP) living with skin conditions, and can have a profound impact on wellbeing. However, there is limited guidance on how best to assess and support the mental health of this population, who are at risk of poor health outcomes. The British Society for Paediatric and Adolescent Dermatology formed a working group to address the mental health needs of CYP with skin conditions, including hair and nails. A systematic review, appraisal of literature and a national survey were carried out, and a multidisciplinary consensus guideline group was convened, comprising dermatologists with expertise in paediatric dermatology and psychodermatology, psychologists, psychiatrists, general practitioners, paediatricians and specialist nurses. Two multidisciplinary virtual panel meetings took place: (i) an initial meeting to discuss the scope, review the current evidence and identify areas for development; and (ii) a second meeting to agree the content and wording of the recommendations. The primary objective was to provide consensus-based guidance on the assessment and monitoring of, and support for, mental health in CYP with skin conditions. Secondary objectives were to address important practical clinical questions relating to primary guidance objectives, and provide audit and research recommendations. The expert panel achieved consensus on 11 recommendations for health workers managing CYP with skin conditions. A new patient-completed history-taking aid called ‘You and Your Skin’ was developed and is being piloted. The recommendations focus on improved mental health assessments for CYP presenting with a skin condition, with clinical guidance and suggested screening measures included. Information regarding accessing psychological support for CYP when required is given, and recommendations were provided for training in mental health and neurodiversity for staff. The methodology and recommendations will be presented in full. Embedding a psychosocial approach within services treating CYP with skin disease should ensure that CYP with psychological needs are able to be identified, listened to, supported and treated. This is likely to improve health outcomes.
P70 A randomized open-label study to compare two different dosage regimens of oral tranexamic acid in treatment of moderate-to-severe facial melasma
Authors: Vinay Keshavamurthy, Rajsmita Bhattacharjee, Vinod Hanumanthu, Vishal Thakur, Anuradha Bishnoi, Davinder Parsad, Muthu Sendhil Kumaran
Journal: British Journal of Dermatology (2023)

Abstract Oral tranexamic acid (TXA) demonstrates promising results in melasma treatment; however, TXA dosing in melasma management has been a cause for persistent speculation. There is still no consensus to guide dosing, duration of TXA therapy and need for maintenance treatment. Our aim was to evaluate and compare the efficacy of two different TXA dosing regimens, 250 mg twice daily vs. 500 mg twice daily in patients with melasma using the modified Melasma Area and Severity Index (mMASI) score. This was a randomized open-label study involving 50 patients aged &amp;gt; 18 years with moderate-to-severe melasma. Patients were randomized into group A (oral TXA 250 mg twice daily) and group B (oral TXA 500 mg twice daily) for 12 weeks and later followed-up monthly to 24 weeks. The primary outcome measure was the proportion of patients achieving a 75% reduction in mMASI (mMASI-75) at 12 weeks from baseline, and a reduction in mMASI and Melasma Quality of Life (MelasQOL) score at 12 and 24 weeks. The proportion of patients achieving mMASI-75 at 12 weeks was 20% in group A and 25% in B (P = 0.71). Both groups showed a statistically significant reduction in mean (SD) mMASI [4.8 (2.2) in group A and 6.8 (3.4) in group B; P = 0.02] at 12 weeks. mMASI remained stable after 12 weeks and was 4.9 (2.43) and 4.92 (2.85) in groups A and B, respectively, at 24 weeks (P = 0.97). The mean (SD) percentage reduction rates in MelasQOL in groups A and B were 41.8 (15.3) and 29.5 (21.5), respectively (P = 0.03). No adverse effects were observed in either group. Both dosing regimens showed comparative efficacy in terms of mMASI reduction at 12 weeks. The improvements achieved were well maintained even after 12 weeks of discontinuing treatment. Hence, lower doses of TXA (i.e. 250 mg twice daily) are equally as effective and safe as higher doses (i.e. 500 mg twice daily). With regard to maintenance dosing, few patients relapsed; hence, not all patients will require tapering or dosing maintenance.